Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960318G>A , CM000670.2:g.47960318G>A | GRCh38 |
| NC_000008.10:g.48872878G>A , CM000670.1:g.48872878G>A | GRCh37 |
| NC_000008.9:g.49035431G>A | NCBI36 |
| NG_023435.1:g.4866C>T , LRG_162:g.4866C>T | |
| NG_032967.1:g.5116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-17G>A | ENSP00000430329.1:n.-17G>A | |
| NM_005914.3:c.-827G>A | NP_005905.2:n.-827G>A | |
| NM_182746.2:c.-711G>A | NP_877423.1:n.-711G>A | |
| XM_005251234.1:c.-1073G>A | XP_005251291.1:n.-1073G>A |